Publications by authors named "Osvaldo M Mutchinick"

38Publications

Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study.

Am J Med Genet A 2019 08 15;179(8):1432-1441. Epub 2019 May 15.

Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, Mexico.

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http://dx.doi.org/10.1002/ajmg.a.61193DOI Listing
August 2019

OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.

Birth Defects Res 2019 07 1;111(11):666-671. Epub 2019 May 1.

Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, Mexico.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/bdr2.1512
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http://dx.doi.org/10.1002/bdr2.1512DOI Listing
July 2019

A Novel Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.

Mol Syndromol 2018 Feb 18;9(2):110-114. Epub 2018 Jan 18.

Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico City, Mexico.

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http://dx.doi.org/10.1159/000485908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836150PMC
February 2018

Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.

Rev Invest Clin 2016 Sep-Oct;68(5):269-274

Genetics Department Research Unit, Instituto de Oftalmología Conde de Valenciana, Mexico City, Mexico.

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July 2017

Genetic Risk Determinants for Cigarette Smoking Dependence in Mexican Mestizo Families.

Nicotine Tob Res 2016 May 27;18(5):620-5. Epub 2015 Sep 27.

Departament of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", México, D.F., México;

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http://dx.doi.org/10.1093/ntr/ntv213DOI Listing
May 2016

Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican families.

J Cosmet Dermatol 2015 Dec 14;14(4):268-73. Epub 2015 Jul 14.

Departamento de Genética, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", México, D.F., México.

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http://doi.wiley.com/10.1111/jocd.12159
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http://dx.doi.org/10.1111/jocd.12159DOI Listing
December 2015

Identification of Copy Number Variations in Isolated Tetralogy of Fallot.

Pediatr Cardiol 2015 Dec 3;36(8):1642-6. Epub 2015 Jun 3.

Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Mexico, D.F., Mexico.

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http://dx.doi.org/10.1007/s00246-015-1210-9DOI Listing
December 2015

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry.

Ren Fail 2015 Feb 4;37(1):180-3. Epub 2014 Nov 4.

Department of Genetics, National Institute of Medical Sciences and Nutrition "Salvador Zubirán" , México City , México .

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http://dx.doi.org/10.3109/0886022X.2014.977141DOI Listing
February 2015

[Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment].

Salud Publica Mex 2012 Nov-Dec;54(6):579-86

Departamento de Genética, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México, DF, México.

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http://dx.doi.org/10.1590/s0036-36342012000600006DOI Listing
February 2014

X chromosome monosomy in primary and overlapping autoimmune diseases.

Autoimmun Rev 2012 Mar 15;11(5):301-4. Epub 2010 Mar 15.

Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", México.

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http://dx.doi.org/10.1016/j.autrev.2010.03.001DOI Listing
March 2012

[Diabetes, pregnancy and birth defects].

Rev Invest Clin 2008 Mar-Apr;60(2):107-14

Departamento de Genética, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México, D.F.

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October 2008

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.

Eur J Med Genet 2008 May-Jun;51(3):245-50. Epub 2008 Jan 9.

Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Vasco de Quiroga 15, Sección XVI, 14000 Mexico City, Mexico.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.007DOI Listing
August 2008

The role of the X chromosome in immunity and autoimmunity.

Autoimmun Rev 2007 Mar 28;6(4):218-22. Epub 2006 Aug 28.

Department of Immunology and Rheumatology, INCMNSZ, Mexico.

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http://dx.doi.org/10.1016/j.autrev.2006.08.004DOI Listing
March 2007

Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63.

Am J Med Genet A 2005 Apr;134A(1):74-6

Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico.

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http://dx.doi.org/10.1002/ajmg.a.30277DOI Listing
April 2005

A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype.

Fertil Steril 2005 Jan;83(1):201-4

Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Mexico City, Mexico.

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http://dx.doi.org/10.1016/j.fertnstert.2004.07.954DOI Listing
January 2005

Association of vitamin D receptor polymorphisms with osteoporosis in mexican postmenopausal women.

Hum Biol 2003 Jun;75(3):399-403

Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan 14000, D.F. México.

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http://dx.doi.org/10.1353/hub.2003.0045DOI Listing
June 2003

[Medicine in a genetic and molecular context].

Rev Invest Clin 2003 Mar-Apr;55(2):186-90

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September 2003